オルニチントランスカルバミラーゼ欠損症

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000531.6(OTC):c.988A>G (p.Arg330Gly)	OTC	Pathogenic/Likely pathogenic	X	38271235	38271235	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA224864,UniProtKB:P00480#VAR_004939
single nucleotide variant	NM_000531.6(OTC):c.903A>T (p.Leu301Phe)	OTC	Pathogenic/Likely pathogenic	X	38271150	38271150	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224823,UniProtKB:P00480#VAR_012654
single nucleotide variant	NM_000531.6(OTC):c.803T>C (p.Met268Thr)	OTC	Pathogenic/Likely pathogenic	X	38268214	38268214	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224799,UniProtKB:P00480#VAR_004925
single nucleotide variant	NM_000531.6(OTC):c.596A>G (p.Asn199Ser)	OTC	Pathogenic/Likely pathogenic	X	38262926	38262926	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA224702
single nucleotide variant	NM_000531.6(OTC):c.589G>A (p.Gly197Arg)	OTC	Pathogenic/Likely pathogenic	X	38262919	38262919	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224695,UniProtKB:P00480#VAR_009235
single nucleotide variant	NM_000531.6(OTC):c.119G>A (p.Arg40His)	OTC	Pathogenic/Likely pathogenic	X	38226585	38226585	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224454,UniProtKB:P00480#VAR_004846,OMIM:300461.0029
single nucleotide variant	NM_000531.6(OTC):c.118C>T (p.Arg40Cys)	OTC	Pathogenic/Likely pathogenic	X	38226584	38226584	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA090910,UniProtKB:P00480#VAR_004845,OMIM:300461.0028
single nucleotide variant	NM_000531.6(OTC):c.77G>A (p.Arg26Gln)	OTC	Pathogenic/Likely pathogenic	X	38212026	38212026	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255647,UniProtKB:P00480#VAR_004843,OMIM:300461.0008
Duplication	NM_000531.6(OTC):c.391_397dup (p.Ser133delinsIleValTer)	OTC	Pathogenic	X	38260529	38260530	G	GTATTGTC	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_38401255)_(38401693_?)del	OTC	Pathogenic	X	38260508	38260946	na	na	criteria provided, single submitter	-